SLC25A19 solute carrier family 25 member 19
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 22 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 62 |
| Likely benign | 0 | 114 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| Uncertain significance | 0 | 126 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
74 |
 |
224 |
 |
20 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DNC |
| SYNONYM | MCPHA |
| SYNONYM | MTPPT |
| SYNONYM | MUP1 |
| SYNONYM | THMD3 |
| SYNONYM | THMD4 |
| SYNONYM | TPC |
| MIM | 606521 OMIM |
| HGNC | HGNC:14409 HGNC |
| Ensembl | ENSG00000125454 Ensembl |
| AllianceGenome | HGNC:14409 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000320362.7 | hg38 | chr17 | 75,272,993 | 75,289,433 | 16,441 |
| ENST00000375261.8 | hg38 | chr17 | 75,272,981 | 75,289,449 | 16,469 |
| ENST00000580994.5 | hg38 | chr17 | 75,273,030 | 75,289,411 | 16,382 |
| ENST00000442286.6 | hg38 | chr17 | 75,272,993 | 75,289,390 | 16,398 |
| ENST00000416858.7 | hg38 | chr17 | 75,272,992 | 75,289,433 | 16,442 |
| ENST00000402418.7 | hg38 | chr17 | 75,272,993 | 75,287,674 | 14,682 |
| ENST00000375261.8 | hg19 | chr17 | 73,269,062 | 73,285,530 | 16,469 |
| ENST00000416858.7 | hg19 | chr17 | 73,269,073 | 73,285,514 | 16,442 |
| ENST00000402418.7 | hg19 | chr17 | 73,269,074 | 73,283,755 | 14,682 |
| ENST00000442286.6 | hg19 | chr17 | 73,269,074 | 73,285,471 | 16,398 |
| ENST00000320362.7 | hg19 | chr17 | 73,269,074 | 73,285,514 | 16,441 |
| ENST00000580994.5 | hg19 | chr17 | 73,269,111 | 73,285,492 | 16,382 |
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